ClinVar Miner

Submissions for variant NM_004055.5(CAPN5):c.728G>T (p.Arg243Leu)

dbSNP: rs397514601
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001383042 SCV001582053 pathogenic not provided 2024-07-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 243 of the CAPN5 protein (p.Arg243Leu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with autosomal dominant neovascular inflammatory vitreoretinopathy (PMID: 23055945). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 39806). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CAPN5 protein function with a negative predictive value of 80%. Experimental studies have shown that this missense change affects CAPN5 function (PMID: 23055945, 24381307, 25994508). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000033027 SCV000056807 pathogenic Proliferative vitreoretinopathy 2012-01-01 no assertion criteria provided literature only
GenomeConnect - Invitae Patient Insights Network RCV001535499 SCV001749452 not provided Autosomal dominant neovascular inflammatory vitreoretinopathy no assertion provided phenotyping only Variant interpreted as Pathogenic and reported on 11-05-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.